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Phenotype

Association of a single nucleotide polymorphism in the ubxn6 gene with long-term non-progression phenotype in HIV-positive individuals.

Submitted by iguillen on Fri, 07/05/2019 - 14:34
Díez-Fuertes F, De La Torre-Tarazona HE, Calonge E, et al. Association of a single nucleotide polymorphism in the ubxn6 gene with long-term non-progression phenotype in HIV-positive individuals. Clin Microbiol Infect. 2020;26(1):107-114. doi:10.1016/j.cmi.2019.05.015.

Exploring the druggable space around the Fanconi anemia pathway using machine learning and mechanistic models.

Submitted by iguillen on Fri, 07/05/2019 - 14:25
Esteban-Medina M, Peña-Chilet M, Loucera C, Dopazo J. Exploring the druggable space around the Fanconi anemia pathway using machine learning and mechanistic models. BMC Bioinformatics. 2019;20(1):370. doi:10.1186/s12859-019-2969-0.

Direct functional assessment of the composite phenotype through multivariate projection strategies.

Submitted by iguillen on Thu, 07/04/2019 - 11:47
Conesa A, Bro R, Garcia-Garcia F, et al. Direct functional assessment of the composite phenotype through multivariate projection strategies. Genomics. 2008;92(6):373-83. doi:10.1016/j.ygeno.2008.05.015.

Exploring the antimicrobial action of a carbon monoxide-releasing compound through whole-genome transcription profiling of Escherichia coli.

Submitted by iguillen on Fri, 06/28/2019 - 14:20
Nobre LS, Al-Shahrour F, Dopazo J, Saraiva LM. Exploring the antimicrobial action of a carbon monoxide-releasing compound through whole-genome transcription profiling of Escherichia coli. Microbiology (Reading). 2009;155(Pt 3):813-824. doi:10.1099/mic.0.023911-0.

Functional analysis of multiple genomic signatures demonstrates that classification algorithms choose phenotype-related genes.

Submitted by iguillen on Tue, 06/18/2019 - 12:21
Shi W, Bessarabova M, Dosymbekov D, et al. Functional analysis of multiple genomic signatures demonstrates that classification algorithms choose phenotype-related genes. Pharmacogenomics J. 2010;10(4):310-23. doi:10.1038/tpj.2010.35.

SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants.

Submitted by iguillen on Tue, 06/18/2019 - 10:45
De Baets G, Van Durme J, Reumers J, et al. SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants. Nucleic Acids Res. 2012;40(Database issue):D935-9. doi:10.1093/nar/gkr996.

Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters.

Submitted by iguillen on Tue, 06/18/2019 - 10:13
Puig-Butille JAnton, Malvehy J, Potrony M, et al. Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters. Exp Dermatol. 2013;22(7):494-6. doi:10.1111/exd.12177.

The role of the interactome in the maintenance of deleterious variability in human populations.

Submitted by iguillen on Mon, 06/17/2019 - 13:34
García-Alonso L, Jiménez-Almazán J, Carbonell-Caballero J, et al. The role of the interactome in the maintenance of deleterious variability in human populations. Mol Syst Biol. 2014;10:752. doi:10.15252/msb.20145222.

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.

Submitted by iguillen on Mon, 06/17/2019 - 12:40
Méndez-Vidal C, Bravo-Gil N, del Pozo MGonzález-, et al. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. BMC Genet. 2014;15:143. doi:10.1186/s12863-014-0143-2.